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Časopis Neurology – Článok Hereditary amyloid transthyretin (hATTR) polyneuropathy – clinical forms, diagnostics and treatment

Neurology

Reviewed, postgraduate scietific medical journal.
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
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Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné
Téma: Overview works

Hereditary amyloid transthyretin (hATTR) polyneuropathy – clinical forms, diagnostics and treatment

Peter Špalek

Hereditary amyloid transthyretin polyneuropathy is a severe and rare hereditary neuropathy with autosomal dominant inheritance with pathogenic mutations in TTR gene. hATTR polyneuropathy is caused by an abnormal protein transthyretin (TTR) produced by liver. Pathogenic amyloidogenic mutations are responsible for destabilisation of TTR tetramere and monomere association into amyloidogenic formations. Amyloid is placed in all peripheral nerves, causing their destruction. hATTR polyneuropathy is primarily characterized by progressive sensory, motor and autonomic neuropathy. In advanced stages there are severe neurological symptoms – flaccid paralysis, global muscle atrophy, severe sensitivity disturbances for all qualities, neuropathic pains and severe symptoms of autonomic organ dysfunctions. hATTR polyneuropathy is a progressive, disabling and life-threatening polyneuropathy. If untreated the disease has an inexorable progressive course and death occurs within 10 years of symptoms onset. Tafamidis has brought an essential breakthrough in treatment and prognosis of hATTR polyneuropathy patients. Tafamidis acts as a specific TTR stabilizer, prohibits TTR transformation into amyloid and its deposition to peripheral nerves. The hereditary amyloid transthyretin polyneuropathy occurs in two forms:
• Early-onset has an onset in young age (25-35 years).
• Late-onset occurs in elder age over 50-60 years.
Sporadic form of transthyretin familial amyloid polyneuropathy is caused by de novo mutations in TTR gene. Sporadic forms are rare, also undiagnosed, and usually manifesting as idiopathic sporadic progressive axonal polyneuropathy. The definitive diagnosis of all 3 hATTR polyneuropathy forms is confirmed by DNA evidence of pathogenic mutations in TTR gene. As hATTR polyneuropathy is a progressive, disabling and life-threatening polyneuropathy, it is important to secure an accurate diagnosis as soon as possible in familial and sporadic forms. It is important to suspect de novo ATTR polyneuropathy among patients with idiopathic progressive axonal peripheral neuropathies and painful sensitive neuropathies. Patients treated with tafamidis in an early stage of polyneuropathy have remakable results achieved. Recently, patisiran, an RNAi therapeutic, showed to reduce significantly TTR level by degradation of mRNA in TTR gen.
Keywords: hereditary amyloid transthyretin polyneuropathy, amyloid mutations in TTR gene, transthyretin, clinical manifestations, DNA diagnosis, treatment

hereditary amyloid transthyretin polyneuropathy, amyloid mutations in TTR gene, transthyretin, clinical manifestations, DNA diagnosis, treatment
Neurológia 2020; 15 (1): 17-23

Ročník 2020  Témy časopisu Neurology 1 / 2020

Overview works

Ján Chandoga
Peter Špalek
Robert Petrovič, Mária Fischerová, Ján Chandoga
Lenka Juříková, Pavlína Danhofer, Štefánia Aulická
Jana Ballová, Egon Kurča, Milan Grofik, Lucia Babálová, Róbert Ružinák
Simona Stanková, Michal Minár
Jana Ballová, Egon Kurča, Róbert Ružinák, Lucia Babálová
Ema Kantorová

Case studies

Alica Valachová, Lenka Juráčková, Pavol Šimurka, František Horn, Jana Vlčeková, Miroslava Ďuranová
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2. Stenestrand U, Wallentin L. Swedish Register of Cardiac Intensive Care (RIKS-HIA): Early statin treatment following acute myocardial infarction and 1-year survival. JAMA 2001; 285(4): 430-436.
3. LIPID Study Group. Prevention of cardiovascular events and death with pravastatin in patients with coronary heart disease and a broad range of initial cholesterol levels. N Engl J Med 1998; 339: 1349-1357.
4. Jurkovičová O, Spitzerová H, Cagáň S. Komorové arytmie a náhla srdcová smrť pri akútnom infarkte myokardu. Bratisl Lek Listy 1997; 98: 379-389.
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The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné